He is an Associate Professor in the Department of Neurobiology at the University of Alabama at Birmingham. He was an undergraduate at the University of South Florida and then went on to the University of Florida as a graduate student under the supervision of Maurice Swanson. During his studies with Dr. Swanson, he biochemically isolated the first family of heterogeneous nuclear ribonuclear proteins in yeast and performed classical genetics to investigate the function of hnRNPs in yeast. He then began his training in mouse genetics in the laboratory of Drs. Neal Copeland and Nancy Jenkins at the National Cancer Institute as a postdoctoral fellow. While at the NCI he used a positional cloning approach to identify the mouse mutations ashen, waltzer and ataxia. The identification of these gene products has allowed for important insights into vesicular trafficking, auditory function, and neurodegeneration respectively. In addition to these projects, he also studied the function of voltage gated calcium channels by generating gene knockouts for the alpha1A and alpha1E subunits in mice. He joined the faculty at UAB in 2002 to continue his studies on the nervous system using mouse models of neurodegeneration.

Research/Clinical Interest

Title

Mouse Models of Neurodegeneration

Description

The identification of genes involved in neurodegeneration is a powerful means to understand the mechanisms of neuronal cell loss. Our laboratory focuses on identifying these genes through a variety of approaches in mice that include transgenics, gene-knockouts and positional cloning. We have recently cloned the mouse neurological mutation ataxia. The ataxia mouse displays a severe tremor and hind limb paralysis by 5 weeks of age. We showed that ataxia gene encodes Usp14, a member of the ubiquitin/proteosomepathway. During our analysis of the ataxia mouse, we found that loss of Usp14 results in synaptic transmission defects in both the central and peripherial nervous sytem. Since the members of this pathway act on a variety of substrates, we believe that the identification of the substrate(s) for Usp14 will provide important insights into the pathogenesis of the ataxia tremor and paralysis. In addition to Usp14, we are also investigating the function of several other members of the ubiquitin/proteosome pathway that are involved in neuronal function. The mouse waltzer mutation is another mutation that we recently cloned. The waltzer gene encodes Cdh23, the newest member of the cadherin superfamily. Loss of this gene product in humans results in both auditory and vestibular dysfunction. We are currently producing antibodies and generating other alleles of Cdh23 to understand how this gene product functions in the perception of sound and maintenance of balance.